Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of bone marrow cell morphology (HP:0005561)

Parent Node:
Abnormal megakaryocyte morphology (HP:0012143)

..Starting node
..Megakaryocyte dysplasia (HP:0031689)

Term ID:

31689

Name:

Megakaryocyte dysplasia

Synonym:

Dysmegakaryopoiesis

Definition:

The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.

Comments:

Reference:

HP:0031689

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased megakaryocyte count (HP:0005513)

Increased micromegakaryocyte count (HP:0031386)

Increased multinucleated megakaryocyte count (HP:0031387)

Megakaryocyte nucleus hyperlobulation (HP:0031388)

Megakaryocyte nucleus hypolobulation (HP:0031385)

Megakaryocytopenia (HP:0005548)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031689	HP:0031689	Megakaryocyte dysplasia	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0031689	HP:0031689	Megakaryocyte dysplasia	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0031689	HP:0031689	Megakaryocyte dysplasia	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0031689	HP:0031689	Megakaryocyte dysplasia	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0031689	HP:0031689	Megakaryocyte dysplasia	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35

Genes (5) :MYH9 MYSM1 RFWD3 SAMD9 UBA1

Diseases (5) :OMIM:155100 ORPHA:508542 OMIM:617784 OMIM:619041 OMIM:301054

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.